Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs387906758
rs387906758
0.851 0.080 2 190995185 missense variant G/A;C snv
CUI: C3279990
Disease: CANDIDIASIS, FAMILIAL, 7
CANDIDIASIS, FAMILIAL, 7
0.800 1.000 12 2011 2017
dbSNP: rs387906759
rs387906759
0.851 0.080 2 190995205 missense variant G/A snv
CUI: C3279990
Disease: CANDIDIASIS, FAMILIAL, 7
CANDIDIASIS, FAMILIAL, 7
0.800 1.000 10 2011 2016
dbSNP: rs587777630
rs587777630
0.716 0.440 2 190986921 missense variant G/A snv
CUI: C3279990
Disease: CANDIDIASIS, FAMILIAL, 7
CANDIDIASIS, FAMILIAL, 7
0.800 1.000 10 2011 2017
dbSNP: rs387906760
rs387906760
0.790 0.200 2 190995184 missense variant C/T snv
CUI: C3279990
Disease: CANDIDIASIS, FAMILIAL, 7
CANDIDIASIS, FAMILIAL, 7
0.800 1.000 5 2011 2015
dbSNP: rs387906761
rs387906761
1.000 2 190995148 missense variant T/A snv
CUI: C3279990
Disease: CANDIDIASIS, FAMILIAL, 7
CANDIDIASIS, FAMILIAL, 7
0.800 1.000 5 2011 2015
dbSNP: rs387906762
rs387906762
0.925 0.080 2 190998246 missense variant T/C snv
CUI: C3279990
Disease: CANDIDIASIS, FAMILIAL, 7
CANDIDIASIS, FAMILIAL, 7
0.800 1.000 5 2011 2015
dbSNP: rs387906763
rs387906763
1.000 2 190999647 missense variant A/G snv
CUI: C3279990
Disease: CANDIDIASIS, FAMILIAL, 7
CANDIDIASIS, FAMILIAL, 7
0.800 1.000 5 2011 2015
dbSNP: rs387906764
rs387906764
1.000 2 190999673 missense variant T/C snv
CUI: C3279990
Disease: CANDIDIASIS, FAMILIAL, 7
CANDIDIASIS, FAMILIAL, 7
0.800 1.000 5 2011 2015
dbSNP: rs387906765
rs387906765
1.000 2 190995143 missense variant T/C snv
CUI: C3279990
Disease: CANDIDIASIS, FAMILIAL, 7
CANDIDIASIS, FAMILIAL, 7
0.800 1.000 5 2011 2015
dbSNP: rs387906766
rs387906766
1.000 2 190999659 missense variant A/T snv
CUI: C3279990
Disease: CANDIDIASIS, FAMILIAL, 7
CANDIDIASIS, FAMILIAL, 7
0.800 1.000 5 2011 2015
dbSNP: rs387906767
rs387906767
1.000 2 190999674 missense variant C/G snv
CUI: C3279990
Disease: CANDIDIASIS, FAMILIAL, 7
CANDIDIASIS, FAMILIAL, 7
0.800 1.000 5 2011 2015
dbSNP: rs387906768
rs387906768
1.000 2 190995193 missense variant T/G snv
CUI: C3279990
Disease: CANDIDIASIS, FAMILIAL, 7
CANDIDIASIS, FAMILIAL, 7
0.800 1.000 5 2011 2015
dbSNP: rs587777628
rs587777628
1.000 2 190999630 missense variant G/T snv
CUI: C3279990
Disease: CANDIDIASIS, FAMILIAL, 7
CANDIDIASIS, FAMILIAL, 7
0.800 1.000 5 2011 2015
dbSNP: rs587777629
rs587777629
1.000 2 190995151 missense variant T/C snv
CUI: C3279990
Disease: CANDIDIASIS, FAMILIAL, 7
CANDIDIASIS, FAMILIAL, 7
0.800 1.000 5 2011 2015
dbSNP: rs863223398
rs863223398
1.000 2 190995173 missense variant T/C snv
CUI: C3279990
Disease: CANDIDIASIS, FAMILIAL, 7
CANDIDIASIS, FAMILIAL, 7
0.800 1.000 5 2011 2015
dbSNP: rs137852677
rs137852677
0.925 0.080 2 190975830 missense variant A/G snv
CUI: C4013950
Disease: IMMUNODEFICIENCY 31A
IMMUNODEFICIENCY 31A
0.800 1.000 3 2001 2012
dbSNP: rs137852678
rs137852678
1.000 2 190978930 missense variant A/G snv
CUI: C3151088
Disease: IMMUNODEFICIENCY 31B
IMMUNODEFICIENCY 31B
0.800 1.000 3 2003 2013
dbSNP: rs137852679
rs137852679
0.925 0.080 2 190983699 missense variant C/A;T snv 4.0E-06
CUI: C4013950
Disease: IMMUNODEFICIENCY 31A
IMMUNODEFICIENCY 31A
0.800 1.000 3 2001 2012
dbSNP: rs137852680
rs137852680
1.000 2 190991307 missense variant C/G snv
CUI: C4013950
Disease: IMMUNODEFICIENCY 31A
IMMUNODEFICIENCY 31A
0.800 1.000 3 2001 2012
dbSNP: rs587777704
rs587777704
0.925 2 190976881 missense variant T/C snv
CUI: C4013950
Disease: IMMUNODEFICIENCY 31A
IMMUNODEFICIENCY 31A
0.800 1.000 3 2001 2012
dbSNP: rs587777705
rs587777705
0.925 2 190976990 missense variant T/C snv
CUI: C4013950
Disease: IMMUNODEFICIENCY 31A
IMMUNODEFICIENCY 31A
0.800 1.000 3 2001 2012
dbSNP: rs587776870
rs587776870
1.000 2 190998247 missense variant C/A snv
CUI: C3151088
Disease: IMMUNODEFICIENCY 31B
IMMUNODEFICIENCY 31B
0.800 0
dbSNP: rs796065052
rs796065052
0.925 0.080 2 190986924 missense variant C/T snv
CUI: C3279990
Disease: CANDIDIASIS, FAMILIAL, 7
CANDIDIASIS, FAMILIAL, 7
0.800 0
dbSNP: rs387906758
rs387906758
0.851 0.080 2 190995185 missense variant G/A;C snv
CUI: C3151088
Disease: IMMUNODEFICIENCY 31B
IMMUNODEFICIENCY 31B
0.700 1.000 9 2011 2017
dbSNP: rs387906758
rs387906758
0.851 0.080 2 190995185 missense variant G/A;C snv
CUI: C4013950
Disease: IMMUNODEFICIENCY 31A
IMMUNODEFICIENCY 31A
0.700 1.000 9 2011 2017